Canonical Allele Identifier: CA2578205146

Gene: MMAA

Linked Data

• gnomAD v4: 4-145639641-TAAAA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.145639646_145639649del , CM000666.2:g.145639646_145639649del	GRCh38
NC_000004.11:g.146560798_146560801del , CM000666.1:g.146560798_146560801del	GRCh37
NC_000004.10:g.146780248_146780251del	NCBI36
NG_007536.1:g.25349_25352del
NG_007536.2:g.45605_45608del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541599.5:c.439+68_439+71del	ENSP00000442284.3:n.439+68_439+71del
ENST00000647947.1:c.*3_*6del	ENSP00000496781.1:n.*3_*6del
ENST00000648388.1:c.439+68_439+71del	ENSP00000497046.1:n.439+68_439+71del
ENST00000649156.2:c.439+68_439+71del MANE Select	ENSP00000497008.1:n.439+68_439+71del
ENST00000649173.1:c.439+68_439+71del	ENSP00000497871.1:n.439+68_439+71del
ENST00000649704.1:c.439+68_439+71del	ENSP00000497680.1:n.439+68_439+71del
ENST00000679563.1:c.439+68_439+71del	ENSP00000506503.1:n.439+68_439+71del
ENST00000679930.1:c.435+72_435+75del	ENSP00000506293.1:n.435+72_435+75del
ENST00000281317.9:c.439+68_439+71del	ENSP00000281317.5:n.439+68_439+71del
ENST00000506919.1:n.927+68_927+71del
ENST00000511969.4:c.439+68_439+71del	ENSP00000427422.1:n.439+68_439+71del
ENST00000541599.4:c.439+68_439+71del	ENSP00000442284.2:n.439+68_439+71del
NM_172250.2:c.439+68_439+71del	NP_758454.1:n.439+68_439+71del
XM_011531684.1:c.439+68_439+71del	XP_011529986.1:n.439+68_439+71del
XM_011531685.1:c.439+68_439+71del	XP_011529987.1:n.439+68_439+71del
XM_011531686.1:c.-277_-274del	XP_011529988.1:n.-277_-274del
NM_172250.3:c.439+68_439+71del MANE Select	NP_758454.1:n.439+68_439+71del
XM_011531684.3:c.439+68_439+71del	XP_011529986.1:n.439+68_439+71del
XM_011531685.2:c.439+68_439+71del	XP_011529987.1:n.439+68_439+71del
XM_011531686.2:c.-277_-274del	XP_011529988.1:n.-277_-274del
NM_001375644.1:c.439+68_439+71del	NP_001362573.1:n.439+68_439+71del